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Title:

[Exome diagnostics in neurology].

Document type:
English Abstract; Journal Article; Review
Author(s):
Zech, Michael; Wagner, Matias; Schormair, Barbara; Oexle, Konrad; Winkelmann, Juliane
Abstract:
After an impressively successful application as a research instrument, whole-exome sequencing (WES) now enters the clinical practice due to its high diagnostic, time, and economic efficiency. WES is the diagnostic method of choice for symptoms that may be due to many different monogenic causes. Neurological indications include movement disorders, especially in cases of early symptom onset, familial clustering and complex manifestation. Starting from a blood sample, enrichment and sequencing of t...     »
Journal title abbreviation:
Nervenarzt
Year:
2019
Journal volume:
90
Journal issue:
2
Pages contribution:
131-137
Fulltext / DOI:
doi:10.1007/s00115-018-0667-1
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/30645660
Print-ISSN:
0028-2804
TUM Institution:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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